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    PMCHL1 pro-melanin concentrating hormone like 1 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 5369, updated on 10-Oct-2023

    Summary

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    Official Symbol
    PMCHL1provided by HGNC
    Official Full Name
    pro-melanin concentrating hormone like 1 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:9110
    See related
    Ensembl:ENSG00000290530 MIM:176793; AllianceGenome:HGNC:9110
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable type 1 melanin-concentrating hormone receptor binding activity. Predicted to be involved in chemical synaptic transmission and signal transduction. Predicted to be located in synapse. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See PMCHL1 in Genome Data Viewer
    Location:
    5p14.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (22142352..22152272)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (22250028..22259946)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (22142461..22152381)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cadherin 12 Neighboring gene small nucleolar RNA, H/ACA box 105A Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 1 Neighboring gene uncharacterized LOC107986345 Neighboring gene MPRA-validated peak5184 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:22122549-22123060 Neighboring gene uncharacterized LOC105374682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:22473807-22475006 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:22480518-22480675 Neighboring gene uncharacterized LOC105374681 Neighboring gene glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Birth of two chimeric genes in the Hominidae lineage. Courseaux A, et al. Science, 2001 Feb 16. PMID 11181993
    2. Structure and expression of the variant melanin-concentrating hormone genes: only PMCHL1 is transcribed in the developing human brain and encodes a putative protein. Viale A, et al. Mol Biol Evol, 2000 Nov. PMID 11070051
    3. Antisense expression of the human pro-melanin-concentrating hormone genes. Miller CL, et al. Brain Res, 1998 Aug 24. PMID 9729295
    4. Isolation and characterization of the human melanin-concentrating hormone gene and a variant gene. Breton C, et al. Brain Res Mol Brain Res, 1993 Jun. PMID 8326825
    5. Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCH1 and PMCHL2) to chromosome 5p14 and 5q12-q13. Pedeutour F, et al. Genomics, 1994 Jan 1. PMID 8188237

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_003921.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY008409
      Related
      ENST00000430902.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      22142352..22152272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1862930..1872855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      22250028..22259946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031887.2: Suppressed sequence

      Description
      NM_031887.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate. All of the transcripts associated with this gene are NMD candidates, and it may be that this gene does not encode a
    Nucleotide Protein
    Heading Accession and Version

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